BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: CHRNB2

CHRNB2 (cholinergic receptor nicotinic beta 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000160716
EnsemblGeneIds (GRCh37): ENSG00000160716
OMIM: 118507, Gene2Phenotype
CHRNB2 is in 4 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_201507; omim_20150205_epilepsies; GEL_ID_red_20160217; neuro_20160418_strict; Activating;
Created: 7 Feb 2017, 4:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epilepsy, nocturnal frontal lobe, 3, 605375

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:15 p.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

BRIDGE

Phenotypes

Epilepsy, nocturnal frontal lobe, 3, 605375

OMIM

118507

Clinvar variants

Variants in CHRNB2

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CHRNB2 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source